Osteopoikilosis

Original Editor - Tomer Yona 

Lead Editors  

Definition/Description

Osteopoikilosis, also known as ‘Spotted Bone Disease’ is benign autosomal dominant bone disorder that characterised by small areas (Islands) of sclerotic bony lesions. Osteopoikilosis mainly appears in long bones, carpal and tarsal bones, the pelvis, sacrum and scapulae.

With an estimated incidence of 1:50.000, This disorder may appear in any ages between 15 and 60 years, with slightly more males than females affected.  Osteopoikilosis is typically asymptomatic, although, it has been reported that about 20% of patients will have some degree of articular pain or joint effusion [1][2]

Diagnostic Procedures & Clinical Presentation

Osteopoikilosis is typically detected on incidental imaging- Radiological appearance is multiple small ovoid sclerotic bony lesions, from few mm to 1cm in size. [2][1]

Osteopoikilosis.jpg

Management / Interventions

Osteopoikilosis does not degenerate to malignancy or affect bone strength and no specific treatment or further investigations are required for osteopoikilosis other than patient education and reassurance. This diagnosis should always be kept in mind to avoid unwarranted and expensive investigations. [1][2]

Differential Diagnosis

Radiologically differential diagnosis of osteopoikilosis includes mainly osteopathia striata, melorheostosis, tuberous sclerosis, sclerotic bone metastases and osteomas which may have similar clinical pictures but orthopedic treatment may be necessary for them.[3]




Recent Related Research (from Pubmed)

References

  1. 1.0 1.1 1.2 Hill CE, McKee L. Osteopoikilosis: An important incidental finding. Injury. 2015 Jul 1;46(7):1403-5.
  2. 2.0 2.1 2.2 Dasgupta R, Thomas N. Spotted bone disease. BMJ case reports. 2015 May 4;2015:bcr2014208422.
  3. Borman P, Özoran K, Aydoğ Ş, Coşkun S. Osteopoikilosis: report of a clinical case and review of the literature. Joint Bone Spine. 2002 Mar 31;69(2):230-3.